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Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is a phacomatosis known to be associated with several developmental abnormalities in multiple organ systems including the eyes. NF1 can present with varying ophthalmic manifestations, including Lisch nodules, retinal astrocytic hamartomas, capillary hemangiomas, plexif...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747081/ https://www.ncbi.nlm.nih.gov/pubmed/33437232 http://dx.doi.org/10.1159/000510013 |
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author | Kilgore, David A. Sanders, Riley Uwaydat, Sami |
author_facet | Kilgore, David A. Sanders, Riley Uwaydat, Sami |
author_sort | Kilgore, David A. |
collection | PubMed |
description | Neurofibromatosis type 1 (NF1) is a phacomatosis known to be associated with several developmental abnormalities in multiple organ systems including the eyes. NF1 can present with varying ophthalmic manifestations, including Lisch nodules, retinal astrocytic hamartomas, capillary hemangiomas, plexiform neurofibromas, and choroidal nodules. We present 2 cases of NF1 with presentations that may represent underreported retinal abnormalities occurring in NF1. Case 1 presents a patient who developed spontaneous peripheral retinal dialysis with subsequent retinal detachment; case 2 discusses a patient with multiple pigmented choroidal lesions bilaterally. |
format | Online Article Text |
id | pubmed-7747081 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-77470812021-01-11 Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1 Kilgore, David A. Sanders, Riley Uwaydat, Sami Case Rep Ophthalmol Case Report Neurofibromatosis type 1 (NF1) is a phacomatosis known to be associated with several developmental abnormalities in multiple organ systems including the eyes. NF1 can present with varying ophthalmic manifestations, including Lisch nodules, retinal astrocytic hamartomas, capillary hemangiomas, plexiform neurofibromas, and choroidal nodules. We present 2 cases of NF1 with presentations that may represent underreported retinal abnormalities occurring in NF1. Case 1 presents a patient who developed spontaneous peripheral retinal dialysis with subsequent retinal detachment; case 2 discusses a patient with multiple pigmented choroidal lesions bilaterally. S. Karger AG 2020-11-09 /pmc/articles/PMC7747081/ /pubmed/33437232 http://dx.doi.org/10.1159/000510013 Text en Copyright © 2020 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission. |
spellingShingle | Case Report Kilgore, David A. Sanders, Riley Uwaydat, Sami Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1 |
title | Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1 |
title_full | Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1 |
title_fullStr | Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1 |
title_full_unstemmed | Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1 |
title_short | Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1 |
title_sort | novel and unusual retinal findings in two patients with neurofibromatosis type 1 |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747081/ https://www.ncbi.nlm.nih.gov/pubmed/33437232 http://dx.doi.org/10.1159/000510013 |
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